Phenotypic Expression in the First Case of Complete Trisomy 12: Combination of Prenatal Ultrasound and Necropsic Examination

被引：3

作者：

Machado, Ana Paula ^{[1
]}

Ramalho, Carla ^{[1
]}

Loureiro, Teresa ^{[1
]}

Cunha, Manuela ^{[1
]}

Doria, Sofia ^{[1
]}

Carvalho, Filipa ^{[1
]}

Oliveira, Joao Paulo ^{[1
]}

Brandao, Otilia ^{[1
]}

Matias, Alexandra ^{[1
]}

机构：

[1] Univ Hosp S Joao, Fac Med Porto, Prenatal Diag Unit,Pathol Dept, Ultrasound Unit,Obstet & Gynecol Serv,Genet Lab, Oporto, Portugal

来源：

FETAL DIAGNOSIS AND THERAPY | 2009年 / 25卷 / 02期

关键词：

Complete trisomy 12; sonographic features; Necropsic examination; CHROMOSOME-ABNORMALITIES; WILMS-TUMOR; MOSAICISM; 12P; CHILD;

D O I：

10.1159/000222666

中图分类号：

R71 [妇产科学];

学科分类号：

100211 ;

摘要：

The authors report the first case of a complete trisomy 12 detected antenatally at 16 weeks of gestation. The ultrasonographic features (craniofacial abnormalities) correlated well with postmortem findings. The absence of the hypophysis gland, olfactory pathways and both adrenal glands, as well as developmental anomalies of the central nervous system, were additional findings at autopsy. The recognition of complete trisomy 12 phenotype can be helpful in the pre- and postnatal diagnosis of future similar cases and parental counseling. Copyright (C) 2009 S. Karger AG, Basel

引用

页码：234 / 238

页数：5

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